Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood onset dystonia, chorea or related movement disorder v0.7 | TMEM231 |
Ellen McDonagh Source PanelApp was added to TMEM231. Mode of inheritance for gene TMEM231 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 20; Meckel syndrome 11, 615397; Joubert syndrome 20, 614970; Meckel syndrome; Joubert syndrome with oculorenal defect for gene: TMEM231 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.0 | TMEM231 |
Ellen McDonagh gene: TMEM231 was added gene: TMEM231 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TMEM231 was set to |